Cecile Raynaud-Laroche

Limoges, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Journal: International journal of neonatal screening

Published: May 08, 2025

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.

Journal: Orphanet journal of rare diseases

Published: December 11, 2024

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.

Journal: Brain sciences

Published: September 25, 2020

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Journal: European journal of medical genetics

Published: December 27, 2019

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Journal: BMC medical genomics

Published: August 12, 2019

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Journal: Nature

Published: April 05, 2019

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation.

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation.

Journal: European journal of medical genetics

Published: March 28, 2017

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Journal: Nature

Published: March 01, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026